MEET TONY aka SUPERMAN
Written by Tony's Mom
Tony is a adorable little twin boy born in 2008. He was one of the first children diagnosed in the world with an ADNP mutation in June 2014, just a few months after the ADNP syndrome was discovered. He spent the first few years of his life in and out of the hospital with a never ending list of severe medical complications, procedures and diagnostic testing. At just three months old he underwent open heart surgery, just the first of many surgeries that he had as a young child. He was on a feeding tube because he had difficulties feeding.. It was discovered that he had many brain abnormalities, 4 heart defects, a complicated neurological vision impairment, sleep disorders and severe global developmental delays. He could not walk, could not talk, could not chew, swallow or eat, and no one could give us answers to what was causing all of his problems. Tony underwent 6 years of genetic testing for many different syndromes. Tony spent almost every single day seeing doctors and developmental therapists. Geneticists, cardiologists, neurologists, endocrinologists, allergists, gastroenterologist, urologists and other specialists, but they were all unable to diagnose the cause of his medical issues. They did every test under the sun, MRI's of the brain, Chest, Orbitals, CT scans, Echo's, EKG's, EEG's, Ultrasounds, Barium Swallow Studies, Laryngeal and Renal Scopes and hundreds tests, labs and skin biopsies. Still, after all of this, no answers! Tony started to have significant regression and it was discovered that he had a episode of cerebral atrophy and at that point his doctors seemed to give up looking for answers. We were unsure if he would live or die or if his twin brother was affected. We realized then that no one local would look outside of the box and where content to label him as a Undiagnosed Rare Disease / Genetic Syndrome Child. This was not acceptable to us, we wanted answers, so we went out on our own in search of clinical trials and research studies and he was accepted into a Undiagnosed Genetic Syndrome study at Duke University, where in a matter of months, using Whole Exome Sequencing and a LDT from GeneRX, he was diagnosed with a mutation on his ADNP gene.
As a baby, Tony was a very happy and cuddly little boy. He smiled and laughed most of the time. Feeding was just about the only time he would cry. Even with daily doctors’ visits, tests, labs, scans, etc., Tony always was a very good baby. As he grew older, we immediately could see that he was not developing or hitting milestones. His twin brother was walking and talking and Tony was still unable to even crawl. The first three years were very hard and we received a new medical diagnosis or discovered a new "issue" at almost every doctor visit. He has so many medical conditions and diagnosis' that we made him a list called "Tony's Laundry List”. You can read them all below in the Journal of Molecular Neuroscience story posted below.
Fast forward to today, Tony has had all of his surgeries, most were 100% successful but his last open heart surgery he did suffer from minor strokes. He recently has had a few small seizures and is followed by a team of doctors, medical specialists and developmental therapists. He is essentially non-verbal and has severe cognitive delays, developmental delays a neurological vision impairment. He also rarely sleeps through the night. I joke and say that I have the worlds oldest newborn because he wakes every few hours. He is still in diapers and can't be left alone, much like a small child. For us, our biggest challenge now is Autism and Prader Willi like symptoms of Hyperphagia. Tony is low functioning which makes his daily life very difficult. He still loves to interact with adults and is very affectionate and loving, however, as he becomes older, he has developed a lot of difficult behaviors similar to children with Autism. He has great respective skills and a very funny sense of humor. Tony LOVES sensory input, so some of his favorite things are playing in water, listening to music, playing on his ipad and movement activities like swinging and jumping. He is a beautiful, loving little boy who I believe has extreme potential.
To us, Tony is Superman. He has donated his stem cells, blood, skin, baby teeth, hair and brain scans all to help researchers understand ADNP and genetic Autism. He has been in many clinical trial based studies and is currently participating in a very important publication for ADNP. He is the driving force that moved me to start the ADNP Facebook Parent Support Page, the ADNP Kids Resesrch Foundation and ADNPkids.com. He is the hardest working little boy, he goes to school everyday and then does therapy 6 days a week. I believe he has a higher purpose in this life. He has no idea just how many children he is helping or how strong he is. He is for sure a “superhero”, he is our little Superman!
Here are some links to medical journal articles written about Tony (his complete story of his 6 year journey to find a diagnosis and a list of his medical conditions)
- The Compassionate Side of Neuroscience: Tony Sermone's Undiagnosed Genetic Journey - ADNP Mutation
- ADNP - The Medical Odyssey of a Undiagnosed Child